The Journal of the American Medical Association (JAMA) has recognized the GUARDIAN study as one of the nine most impactful, newsworthy, or novel research studies published in the past year. This distinction places GUARDIAN among JAMA’s annual “Research of the Year” selections, highlighting its significance to medicine and public health.
GUARDIAN – Genomic Uniform-screening Against Rare Disease in All Newborns – is a pioneering pilot study that offers panel-based genome sequencing to families of newborns delivered at six hospitals in New York City. The study’s goal is to improve health outcomes by enabling early identification of treatable, early-onset conditions that are not detectable through routine newborn screening.
Results from the first 4,000 infants screened were published in JAMA in early 2025. The study analyzed genes associated with 156 early-onset conditions with established medical interventions, along with an optional panel of 99 additional genes linked to neurodevelopmental conditions associated with seizures. So far, 72% of eligible families consented to participate. 147 infants (3.7%) screened positive, often resulting in early, targeted clinical interventions.
JAMA editors highlighted GUARDIAN as one of the first large-scale observational studies to use DNA analysis as a primary screening method and for its ability to identify infants with serious conditions that might otherwise go undetected until symptoms emerge. Since publication of the initial findings, the screening panel has expanded to include genes associated with up to 465 conditions, and more than 20,000 infants have now been screened.
GUARDIAN is a collaborative effort among Columbia University Irving Medical Center, Boston Children’s Hospital, Harvard Medical School, New York-Presbyterian hospitals, the New York State Department of Health’s Wadsworth Center, GeneDx, and Illumina. Wadsworth Center scientists played a key role in the study, with four members of the Newborn Screening Program serving as co-authors on the JAMA publication.
This national recognition underscores the Wadsworth Center’s leadership in advancing newborn screening science and its commitment to integrating innovative genomic technologies into public health practice to improve outcomes for children in New York State and beyond.